A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9796189



Internal ID18330752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:14350967..14976647hg38UCSC Ensembl
Innerchr11:14372513..14998193hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38625681
hg19625681
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578250
Supporting Variants
Samples401498HH
Known GenesCALCA, COPB1, CYP2R1, PDE3B, PSMA1, RRAS2
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
CommentsNumber of probes=582
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9796189
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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